From Mendelian to Complex Genetics: Why Testing in Cardiovascular Diseases

Dear Colleagues,

The recent developments in sequencing technology have revealed extraordinary applications into clinical diagnostics. Although diagnostic testing has become widely applied and fully integrated into specialty and mainstream medical practice for hereditary and somatic cancer patients, among other medical specialties, the adoption of genetic testing in cardiology practice is still lagging, despite all official guidelines strongly supporting and encouraging a wide utilization. It appears that, among cardiology practitioners, there may be the perception that, unlike other clinical areas, genetic testing may not provide sufficient clinical utility and implementation to patients’ therapy and management.

In this Special Issue of Cardiogenetics, we will discuss (1) the current genetic diagnostic applications and novel therapeutic interventions for genetic cardiovascular diseases with an impact on clinical utility, (2) the importance of key clinical details and the use of big data to refine variant interpretation, and (3) the utilization of comprehensive gene panels to unveil previously underrecognized syndromic presentation or unexpected findings leading to reassessment of the clinical approach. Finally, moving from the Mendelian genetics, we will assess the current knowledge regarding more complex genetic traits, such as coronary artery disease (CAD) or primary arrhythmias with otherwise genotype-negative results, which could benefit from the polygenic risk score (PRS) that can provide cardiologists with a probabilistic assessment of disease risk stratification.

Dr. Matteo Vatta
Dr. Valeria Novelli
Guest Editors

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• cardiovascular genetics
• clinical utility
• diagnostic yield
• polygenic risk score
• coronary artery disease